WordNet
- (baseball) a failure of a defensive player to make an out when normal play would have sufficed (同)misplay
- departure from what is ethically acceptable (同)wrongdoing
- (computer science) the occurrence of an incorrect result produced by a computer (同)computer error
- a misconception resulting from incorrect information (同)erroneous belief
- part of a statement that is not correct; "the book was full of errors" (同)mistake
- to make a mistake or be incorrect (同)mistake, slip
- a colorless crystalline organic base containing nitrogen; the parent compound of various biologically important substances
- any of several bases that are derivatives of purine
- the organic processes (in a cell or organism) that are necessary for life (同)metabolic_process
PrepTutorEJDIC
- 《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
- 〈C〉『誤り』,『まちがい』 / 〈U〉思い違い,誤解 / 〈U〉〈C〉過ち,過失 / 〈U〉(計数の)誤差 / 〈C〉(野球で)エラー,失策
- (判断・考え方・選択などで)『誤る』,まちがえる;過ちを犯す,罪を犯す《+『in』+『名』(do『ing』)》 / (正道・目的などから)それる,逸脱する《+『from』+『名』》
- 新陳代謝,物質交代
UpToDate Contents
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- 1. 先天性代謝異常：分類 inborn errors of metabolism classification
- 2. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
- 3. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
- 4. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
- 5. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
English Journal
- Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
- Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Fukushi D, Wakamatsu N, Taniguchi A, Yamaoka N, Kaneko K, Fujimori S.SourceDepartment of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan. yasyam@inst-hsc.jp
- Nucleosides, nucleotides & nucleic acids.Nucleosides Nucleotides Nucleic Acids.2011 Dec;30(12):1272-5. doi: 10.1080/15257770.2011.597369.
- Mutations of two enzyme genes, HPRT1 encoding hypoxanthine guanine phosphoribosyltransferase (HPRT) and PRPS1 encoding a catalytic subunit (PRS-I) of phosphoribosylpyrophosphate synthetase, cause X-linked inborn errors of purine metabolism. Analyzing these two genes, we have identified three HPRT1 m
- PMID 22132986
- Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.
- Vliet LK, Wilkinson TG 2nd, Duval N, Vacano G, Graham C, Zikánová M, Skopova V, Baresova V, Hnízda A, Kmoch S, Patterson D.SourceEleanor Roosevelt Institute and Department of Biological Sciences, University of Denver, 2101 E. Wesley Avenue, Denver, CO 80208, USA.
- Molecular genetics and metabolism.Mol Genet Metab.2011 Jan;102(1):61-8. doi: 10.1016/j.ymgme.2010.08.022. Epub 2010 Sep 6.
- Adenylosuccinate lyase (ADSL, E. C. 4.3.2.2) carries out two non-sequential steps in de novo AMP synthesis, the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazolecarboxamide ribotide (AICAR) and the conversion of succinyl AMP (AMPS) to AMP. In humans, mutations in A
- PMID 20884265
- Methods for the diagnosis of creatine deficiency syndromes: a comparative study.
- Arias A, Ormazabal A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch R, Ribes A.SourceServei de Bioquímica, Hospital Sant Joan de Déu, Esplugues, Barcelona, Spain.
- Journal of neuroscience methods.J Neurosci Methods.2006 Sep 30;156(1-2):305-9. Epub 2006 Apr 18.
- The increasing number of patients with creatine deficiency syndromes (CDS) stresses the need to develop screening procedures for the identification these inherited disorders. Guanidinoacetate (GAA) and creatine (Cr) are reliable biochemical markers of CDS and several analytical methods to measure bo
- PMID 16621013
Related Links
- Genetic disorders of purine and pyrimidine (PP) metabolism are under-reported and infrequently mentioned in the general literature, as well as in reviews dedicated to other inborn errors of metabolism
- 1. J Inherit Metab Dis. 2009 Apr;32(2):247-63. doi: 10.1007/s10545-009-1094-z. Epub 2009 Mar 15. Inborn errors of purine and pyrimidine metabolism. Jurecka A. Genetic disorders of purine and pyrimidine (PP) metabolism are under ...
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★リンクテーブル★
| リンク元 | 「先天性核酸代謝異常」「先天性プリン・ピリミジン代謝異常」 |
| 関連記事 | 「error」「inborn」「purine」 |
「先天性核酸代謝異常」
「先天性プリン・ピリミジン代謝異常」
「error」
- n.
「inborn」
- adj.
- 先天的な
「purine」
- 同
- purines, metabolism of